Familial Hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, particularly low-density lipoprotein (LDL), leading to increased risk of heart disease and vascular complications. It often requires early diagnosis for effective management.

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Familial Hypercholesterolemia FAQ


What causes Familial Hypercholesterolemia?

Familial Hypercholesterolemia is caused by genetic mutations that impair the body's ability to remove cholesterol from the bloodstream.

How is Familial Hypercholesterolemia diagnosed?

Diagnosis typically involves blood tests to measure cholesterol levels, family history evaluations, and genetic testing.

What are the symptoms of Familial Hypercholesterolemia?

Many individuals do not show symptoms until adulthood; however, signs may include early heart disease or cholesterol deposits on skin or tendons.

How can Familial Hypercholesterolemia be treated?

Treatment usually involves lifestyle changes and medications to lower cholesterol levels, such as statins.

Yes, a low-saturated fat and low-cholesterol diet, rich in fruits, vegetables, and whole grains, is typically recommended.

Can Familial Hypercholesterolemia be inherited?

Yes, it is inherited in an autosomal dominant manner, meaning one copy of the mutated gene from a parent can lead to the condition.

What age should someone be tested for Familial Hypercholesterolemia?

Testing is often recommended in childhood, especially if there's a family history of high cholesterol or heart disease.

Is Familial Hypercholesterolemia common?

It is relatively common, affecting approximately 1 in 250 individuals, but many cases go undiagnosed.

Can exercise help with Familial Hypercholesterolemia?

Yes, regular physical activity can help improve overall heart health and cholesterol levels.

What is the risk of untreated Familial Hypercholesterolemia?

Untreated Familial Hypercholesterolemia significantly increases the risk of early heart disease, heart attacks, and strokes.

Are there support groups for Familial Hypercholesterolemia?

Yes, numerous support groups and online communities offer resources and sharing experiences for those affected.

Can children have Familial Hypercholesterolemia?

Yes, children can inherit the condition and may require management early in life.

Is genetic testing necessary for Familial Hypercholesterolemia?

While not always necessary, genetic testing can confirm the diagnosis and help with family planning and management.

What lifestyle changes help manage Familial Hypercholesterolemia?

Changes include adopting a heart-healthy diet, maintaining a healthy weight, exercising regularly, and quitting smoking.

Can medications completely cure Familial Hypercholesterolemia?

No, while medications can effectively manage cholesterol levels, they do not cure the underlying genetic condition.

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Information provided by Dr. Nithya Priya Raju. Reviewed by Dr. Mohamed El Khouly